C Shaw-Smith

Summary

Affiliation: Addenbrooke's Hospital
Country: UK

Publications

  1. ncbi request reprint Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria
    C Shaw-Smith
    Department of Clinical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Child Care Health Dev 30:551-5. 2004
  2. ncbi request reprint Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature
    Charles Shaw-Smith
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Clin Dysmorphol 14:155-8. 2005
  3. pmc Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
    C Shaw-Smith
    Department of Medical Genetics, Box 134, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
    J Med Genet 43:545-54. 2006
  4. ncbi request reprint Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 143:1135-42. 2007
  5. doi request reprint Keipert syndrome: two further cases and review of the literature
    Serena Nik-Zainal
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Clin Dysmorphol 17:169-75. 2008
  6. pmc 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
    Lionel Willatt
    Department of Medical Genetics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 77:154-60. 2005
  7. pmc VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
    Dorota Szumska
    Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Genes Dev 22:1465-77. 2008
  8. ncbi request reprint Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields
    Subu Subramonia-Iyer
    Public Health Genetics Unit, Cambridge, United Kingdom
    Genet Med 9:74-9. 2007
  9. ncbi request reprint Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    Charles Shaw-Smith
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nat Genet 38:1032-7. 2006
  10. ncbi request reprint Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity
    Enza Maria Valente
    C S S Mendel Institute, San Giovanni Rotondo and Rome, Italy
    Mov Disord 18:1047-51. 2003

Collaborators

  • Serena Nik-Zainal
  • Jurgen Kohlhase
  • F Lucy Raymond
  • Carla Rosenberg
  • A P Morris
  • D Wieczorek
  • Dian Donnai
  • Monica C Varela
  • F Brancati
  • Dorota Szumska
  • Subu Subramonia-Iyer
  • Lionel Willatt
  • Enza Maria Valente
  • Valeria Capra
  • Jennifer M Taylor
  • Shoumo Bhattacharya
  • Jurgen E Schneider
  • Nabil G Seidah
  • Guido Pieles
  • Michal Bilski
  • Zuzanna Tymowska-Lalanne
  • Angela Franklyn
  • Rachid Essalmani
  • Jamie Bentham
  • Kulvinder Kaur
  • Annik Prat
  • Sebastian J Arnold
  • Armando Cama
  • Kieran Clarke
  • Daniel Constam
  • Steve D Brown
  • Dave Stammers
  • Joanna Jefferis
  • Paul Johnson
  • Stefan Neubauer
  • Kamel El Omari
  • Daniel Mesnard
  • Jiannis Ragoussis
  • Mark Kroese
  • Simon Sanderson
  • Pippa Brice
  • Julian Higgins
  • Hilary Burton
  • Ron Zimmern
  • Gurdeep Sagoo
  • Howard Martin
  • Kate Walker
  • John Barber
  • Michael Tettenborn
  • James Cox
  • Elisabet Dachs Cabanas
  • Eddy Maher
  • Bert B A de Vries
  • Erik A Sistermans
  • Amanda Collins
  • Dorothy Trump
  • David R Fitzpatrick
  • Josep Parnau
  • Jacqueline Ramsay
  • Lesley Pindar
  • Bruno Dallapiccola
  • Alfredo Berardelli
  • Nardo Nardocci
  • Thomas T Warner
  • Andrea Nemeth
  • Anna Rita Bentivoglio
  • Barbara Garavaglia
  • Mark R Placzek
  • Sergio Salvi
  • Roberto Eleopra
  • Anjum Misbahuddin

Detail Information

Publications10

  1. ncbi request reprint Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria
    C Shaw-Smith
    Department of Clinical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Child Care Health Dev 30:551-5. 2004
    ..We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU...
  2. ncbi request reprint Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature
    Charles Shaw-Smith
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Clin Dysmorphol 14:155-8. 2005
    ..7%) had height on or below the 0.4th centile, while nine (50%) had height on or below the 10th centile. We suggest that short stature is likely to be a phenotypic feature of Feingold syndrome...
  3. pmc Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
    C Shaw-Smith
    Department of Medical Genetics, Box 134, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
    J Med Genet 43:545-54. 2006
    ..This paper reviews current knowledge of the genetics and epidemiology of the different oesophageal atresia/tracheo-oesophageal fistula syndromes and associations...
  4. ncbi request reprint Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 143:1135-42. 2007
    ..We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome...
  5. doi request reprint Keipert syndrome: two further cases and review of the literature
    Serena Nik-Zainal
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Clin Dysmorphol 17:169-75. 2008
  6. pmc 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
    Lionel Willatt
    Department of Medical Genetics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 77:154-60. 2005
    ..The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome...
  7. pmc VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
    Dorota Szumska
    Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Genes Dev 22:1465-77. 2008
    ..We propose that Pcsk5, at least in part via GDF11, coordinately regulates caudal Hox paralogs, to control anteroposterior patterning, nephrogenesis, skeletal, and anorectal development...
  8. ncbi request reprint Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields
    Subu Subramonia-Iyer
    Public Health Genetics Unit, Cambridge, United Kingdom
    Genet Med 9:74-9. 2007
    ..This paper reports the results of an evaluation of this emerging technology and discusses the challenges faced in conducting the evaluation...
  9. ncbi request reprint Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    Charles Shaw-Smith
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nat Genet 38:1032-7. 2006
    ..The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination...
  10. ncbi request reprint Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity
    Enza Maria Valente
    C S S Mendel Institute, San Giovanni Rotondo and Rome, Italy
    Mov Disord 18:1047-51. 2003
    ..No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases...